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Yan Xin Liang
Pediatrics
About me
Graduated from Nanhua University, engaged in pediatric work for over 10 years, and have further studied at Hunan Children's Hospital, Xiangya Hospital, and Beijing Children's Hospital.
Proficient in diseases
Diagnosis and treatment of common diseases in pediatric internal medicine, especially skilled in the diagnosis and treatment of pediatric respiratory system and neurological diseases, such as pediatric convulsions, epilepsy, asthma, and lung infections...
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If phenylketonuria is not treated, what will happen?
Phenylketonuria (PKU) is an amino acid metabolic disorder primarily caused by a deficiency in phenylalanine hydroxylase. This deficiency prevents phenylalanine from being converted to tyrosine, leading to a significant accumulation of phenylalanine, which is then excreted in large quantities in the urine. It is a common genetic metabolic disorder. If not treated, it can lead to developmental delays in children, particularly in intellectual development, with markedly lower IQ than peers, especially noticeable in language development disorders. Additionally, it can also present with neurological and psychiatric symptoms such as agitation, hyperactivity, increased muscle tone, and hyperreflexia. There is also depigmentation of the skin and hair, and the urine may have a mousy odor.
Phenylketonuria patients lack phenylalanine hydroxylase.
Phenylketonuria is an autosomal recessive genetic disorder caused by mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity and resulting in the accumulation of phenylalanine and its metabolic products in the body, causing the disease. Phenylketonuria is the most common congenital amino acid metabolism disorder, clinically presenting with intellectual developmental delays, lighter skin and hair pigmentation, and a musty urine odor. The disease is mainly caused by mutations in the phenylalanine hydroxylase gene, leading to reduced enzyme activity.
What should a child with pneumonia eat?
Childhood pneumonia is an infectious disease that not only presents symptoms related to the respiratory system but also may include symptoms from the gastrointestinal tract, such as vomiting, diarrhea, loss of appetite, and abdominal distension. Therefore, the diet for pneumonia must be light and easy to digest. For instance, if the child is breastfed, the mother should consume a light and digestible diet. If the child is fed with cow's milk, the milk can be diluted appropriately to aid digestion. Supplementary foods can generally include thin porridge, noodles, rice paste, vegetables, and fruits, as well as a moderate amount of lean meat and eggs, but not in excess. Oily and spicy foods should not be included.
What can be eaten with phenylketonuria?
Phenylketonuria is primarily due to a deficiency of phenylalanine hydroxylase in the body, which prevents the conversion of phenylalanine to tyrosine. Due to the blockage of the metabolic pathway, secondary metabolic pathways are enhanced, leading to the deamination of phenylalanine and the production of large amounts of phenylpyruvic acid. Through oxidation, by-products such as phenylacetic acid, phenyllactic acid, and para-hydroxyphenylpyruvic acid are formed. The treatment mainly involves the use of low-phenylalanine formula milk. When the concentration in the blood reaches the desired level, natural foods can be gradually added in small amounts. Breast milk is the preferred choice as it contains only one-third of the phenylalanine content of cow's milk. For older infants and children, cow's milk, porridge, noodles, and eggs can be added. The principle for introducing foods should be based on low protein and low phenylalanine content, adjusted according to the phenylalanine concentration in the blood. Both too high and too low levels of phenylalanine can affect growth and development.
Is phenylketonuria characterized only by pale facial skin?
Phenylketonuria is a common amino acid metabolic disorder. It is primarily due to the deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine to tyrosine, leading to a series of clinical symptoms. These can manifest as intellectual disability, neuropsychiatric symptoms, eczema, skin scratching, pigment loss, and a musty odor. The skin whiteness mentioned is not merely facial pallor; it affects the entire skin because the benefits of tyrosine are reduced, leading to decreased melanin synthesis. Consequently, the hair of affected children can also be lighter and tend to be brown.
The main cause of hypoxic attacks in Tetralogy of Fallot
Tetralogy of Fallot is a complex congenital heart disease, characterized by ventricular septal defect, right ventricular outflow tract obstruction, aorta overriding, and right ventricular hypertrophy. When the obstruction of the right ventricular outflow tract is severe, pulmonary artery blood flow significantly decreases. A large amount of unoxygenated venous blood passes through the ventricular septal defect causing a right-to-left shunt, which clinically manifests as severe cyanosis and increased red blood cells, and different degrees of hypoxia in the systemic circulation. Factors that can induce hypoxic episodes in these infants include feeding, crying, emotional agitation, anemia, infection, etc. These can suddenly lead to fainting, convulsions, or even death. The main reason is generally due to a sudden muscle spasm at the narrow pulmonary artery infundibulum on top of pre-existing stenosis, causing temporary pulmonary artery obstruction and exacerbating cerebral hypoxia, thus leading to severe hypoxic attacks.
Is Kawasaki disease characterized by eye discharge?
Kawasaki disease is an autoimmune vasculitis that can affect blood vessels throughout the body and various organs, but the most severe impact is typically on the coronary arteries, which can lead to dilation of the coronary arteries or the possibility of forming coronary artery aneurysms. The disease can cause conjunctival congestion, but this is a manifestation of aseptic conjunctivitis, meaning it does not cause, nor does it result in, purulent secretions, in other words, it does not cause eye discharge. Therefore, if a patient with Kawasaki disease has purulent eye discharge, it is possible that they have a concurrent bacterial conjunctivitis. Thus, generally, eyes affected by Kawasaki disease do not have eye discharge but may appear dry and red.
Early symptoms of intussusception in children
Intussusception in children refers to a segment of the intestine telescoping into the adjoining lumen, causing an obstruction to the passage of intestinal contents. Intussusception accounts for 15%-20% of intestinal obstructions and can be primary or secondary. Generally, primary intussusception is more common in infants and young children. Early symptoms may include bloating, abdominal pain, vomiting, possibly accompanied by bloody stools, and a palpable mass in the abdomen. Moreover, intussusception can occur in multiple locations, such as jejunum into jejunum, jejunum into ileum, ileum into ileum, ileum into cecum, ileum into colon, colon into colon, etc. Among these, ileo-cecal intussusception is the most common, while small intestine into small intestine and colon into colon are relatively rare.
Symptoms of roseola infantum
Roseola infantum, also known as baby measles, is caused by human herpesvirus infection, characterized by acute fever accompanied by a rash. Generally, there is no obvious trigger, and it begins with a sudden high fever, where the temperature can reach up to 39°C or even higher than 40°C. The high fever usually lasts for 3-5 days, during which some may experience fever-induced convulsions. Once the fever subsides, the rash begins to appear. Generally, the rash lasts for 1-2 days. After the rash subsides, and in the absence of complications, the condition resolves.
What is roseola infantum?
Roseola infantum is a disease characterized by a fever, followed by a rash after the fever subsides. This disease is caused by an infection with human herpesvirus type 6 or type 7. Typically, it starts with a fever lasting three to five days, which can be moderately high. Generally, a rash appears after the fever subsides, primarily on the torso but it can also spread to the limbs. The rash usually fades within about two days and leaves no scars once it has disappeared.